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UniProtKB/Swiss-Prot P08253: Variant p.Ala228Thr

72 kDa type IV collagenase
Gene: MMP2
Variant information

Variant position:  228
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Alanine (A) to Threonine (T) at position 228 (A228T, p.Ala228Thr).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from small size and hydrophobic (A) to medium size and polar (T)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In a colorectal cancer sample; somatic mutation.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  228
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  660
The length of the canonical sequence.

Location on the sequence:   DDDELWTLGEGQVVRVKYGN  A DGEYCKFPFLFNGKEYNSCT
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         DDDELWTLGEGQVVRVKYGNADGEYCKFPFLFNGKEYNSCT

Mouse                         DDDELWTLGEGQVVRVKYGNADGEYCKFPFLFNGREYSSCT

Rat                           DDDELWTLGEGQVVRVKYGNADGEYCKFPFLFNGREYSSCT

Bovine                        DDDELRTLGEGQVVRVKYGNADGEYCKFPFRFNGKEYTSCT

Rabbit                        DDDELWTLGEGQVVRVKYGNADGEYCKFPFLFNGKEYTSCT

Chicken                       DDDELWTLGEGQVVRVKYGNADGEYCKFPFWFNGKEYNSCT

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 110 – 660 72 kDa type IV collagenase
Domain 228 – 276 Fibronectin type-II 1
Region 222 – 396 Collagen-binding
Metal binding 208 – 208 Calcium 3
Metal binding 209 – 209 Calcium 1
Metal binding 211 – 211 Calcium 1; via carbonyl oxygen
Metal binding 211 – 211 Calcium 3
Helix 226 – 228


Literature citations

The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] THR-228; MET-498 AND ILE-644;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.